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Absent phalangeal crease

MedGen UID:
Concept ID:
Synonyms: Absent interphalangeal creases; Absent phalangeal creases
HPO: HP:0006109


Absence of one or more interphalangeal creases (i.e., of the transverse lines in the skin between the phalanges of the fingers). [from HPO]

Conditions with this feature

Arthrogryposis- oculomotor limitation-electroretinal anomalies syndrome
MedGen UID:
Concept ID:
Disease or Syndrome
Distal arthrogryposis type 5 is distinguished from other forms of DA by the presence of ocular abnormalities, typically ptosis, ophthalmoplegia, and/or strabismus, in addition to contractures of the skeletal muscles. Some cases have been reported to have pulmonary hypertension as a result of restrictive lung disease (summary by Bamshad et al., 2009). There are 2 syndromes with features overlapping those of DA5 that are also caused by heterozygous mutation in PIEZO2: distal arthrogryposis type 3 (DA3, or Gordon syndrome; 114300) and Marden-Walker syndrome (MWKS; 248700), which are distinguished by the presence of cleft palate and mental retardation, respectively. McMillin et al. (2014) suggested that the 3 disorders might represent variable expressivity of the same condition. For a general phenotypic description and a discussion of genetic heterogeneity of distal arthrogryposis, see DA1A (108120). Genetic Heterogeneity of Distal Arthrogryposis 5 A subtype of DA5 due to mutation in the ECEL1 gene (605896) on chromosome 2q36 has been designated DA5D (615065). See NOMENCLATURE.
Brachydactyly type B2
MedGen UID:
Concept ID:
Disease or Syndrome
Brachydactyly type B2 (BDB2) is a subtype of brachydactyly characterized by hypoplasia/aplasia of distal phalanges in combination with distal symphalangism, fusion of carpal/tarsal bones, and partial cutaneous syndactyly (summary by Lehmann et al., 2007).
Camptodactyly syndrome, Guadalajara type 3
MedGen UID:
Concept ID:
Disease or Syndrome
A rare genetic bone development disorder with characteristics of hand camptodactyly associated with facial dysmorphism (flat face, hypertelorism, telecanthus, symblepharon, simplified ears, retrognathia) and neck anomalies (short neck with pterygia, muscle sclerosis). Additional features include spinal defects (e.g. cervical and dorso-lumbar spina bifida occulta), congenital shortness of the sternocleidomastoid muscle, flexed wrists and thin hands and feet. Brain structural anomalies, multiple nevi, micropenis and mild intellectual disability are also observed. Imaging reveals widened femoral necks, cortical thickening of long bones and delayed bone age.
Distal arthrogryposis type 2B1
MedGen UID:
Concept ID:
Disease or Syndrome
Distal arthrogryposis is a clinically and genetically heterogeneous disorder characterized by clenched fist, overlapping fingers, camptodactyly, ulnar deviation, and positional foot deformities from birth. It is a disorder of primary limb malformation without primary neurologic or muscle disease. DA1 is not associated with other abnormalities, whereas other forms of DA have additional phenotypic features (Bamshad et al., 1996). The congenital contractures in DA2B (Sheldon-Hall syndrome, SHS) are similar to those observed in DA1, but affected individuals tend to have more prominent nasolabial folds, downslanting palpebral fissures, and a small mouth. DA2B is thought to be the most common of the distal arthrogryposis disorders (summary by Bamshad et al., 2009). For a general phenotypic description and a discussion of genetic heterogeneity of distal arthrogryposis, see DA1 (108120).
Contractures, pterygia, and variable skeletal fusions syndrome 1B
MedGen UID:
Concept ID:
Disease or Syndrome
Contractures, pterygia, and spondylocarpotarsal fusion syndrome-1B (CPSFS1B) is characterized by contractures of proximal and distal joints, pterygia involving the neck, elbows, fingers, and/or knees, and variable vertebral, carpal, and tarsal fusions. Inter- and intrafamilial variability has been observed (Cameron-Christie et al., 2018). An autosomal dominant form of contractures, pterygia, and spondylocarpotarsal fusion syndrome (CPSFS1A; 178110) is caused by heterozygous mutation in the MYH3 gene.

Recent clinical studies


Fattah A, Pickford MA
J Hand Surg Eur Vol 2007 Oct;32(5):534-6. Epub 2007 May 25 doi: 10.1016/J.JHSE.2007.03.001. PMID: 17950216
Schrander-Stumpel CT, Höweler CJ, Reekers AD, De Smet NM, Hall JG, Fryns JP
J Med Genet 1993 Jan;30(1):78-80. doi: 10.1136/jmg.30.1.78. PMID: 8423615Free PMC Article
Krush AJ, Schaumann BA, Youssoufian H
Am J Med Genet 1988 Sep;31(1):57-62. doi: 10.1002/ajmg.1320310109. PMID: 3223499


Collins FS, Mahoney MJ
J Pediatr 1983 Apr;102(4):620-1. doi: 10.1016/s0022-3476(83)80204-2. PMID: 6572713

Clinical prediction guides

Collins FS, Mahoney MJ
J Pediatr 1983 Apr;102(4):620-1. doi: 10.1016/s0022-3476(83)80204-2. PMID: 6572713

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